Concepedia

Irini Manoli

IM

51

Publications

2.8K

Citations

32

H-Index

2000

Active since

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Harvard University

National Institutes of Health Clinical Center

Boston Children's Hospital

Irini Manoli is an author at National Human Genome Research Institute specializing in medicine, metabolism, and pathology.

ORCID

Top concepts

Publications per year

2000–2023

51

Publications

51

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

Belinda Galeano, Riko Klootwijk, Irini Manoli et al. · Journal of Clinical Investigation · 2007 · 197 citations · Full text

Glucocorticoid receptor (GR) β has intrinsic, GRα-independent transcriptional activity

Tomoshige Kino, Irini Manoli, Sujata Kelkar et al. · Biochemical and Biophysical Research Communications · 2009 · 167 citations · Full text

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Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism

Carles Lerín, Allison B. Goldfine, Tanner Boes et al. · Molecular Metabolism · 2016 · 153 citations · Full text

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer et al. · The American Journal of Human Genetics · 2013 · 130 citations · Full text

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Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

Irini Manoli, Justin R. Sysol, Lingli Li et al. · Proceedings of the National Academy of Sciences · 2013 · 114 citations · Full text

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